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Friday, June 13, 2014

In the Spotlight: Scleroderma

6:00 AM Posted by Tiffany Taft , ,
We're half way through our "Rare Disease of the Month" blogathon for 2014.  This month, we highlight scleroderma, also known as systemic sclerosis.  The most common symptom of scleroderma is a hardening of the skin, but it can manifest in many other ways as well.

Sidenote:  I found out in my research that Robin Williams is affected by Scleroderma and gave this insight:

"You can make up a joke about almost anything. But to tell you the truth, there isn't even one tiny aspect of this disease which lends itself to humor. Scleroderma is a horrible disease with nothing to recommend it, other than the incredible courage which its victims muster in the face of overwhelming odds and terrible suffering."

Snapshot:  Scleroderma is a chronic autoimmune disease that can affect the skin (most common), connective tissue, and internal organs.  The digestive system is commonly affected, with 75-90% of patients reporting GI symptoms. Scleroderma is classified as either localized  (morphea or linear scleroderma) or systemic (limited or diffuse), the former being more common in children and the latter showing up more often in adulthood.  Symptoms vary depending on what part of the body affected.  For example, if the muscles are affected symptoms include pain or stiffness in the joints; if the digestive system is impacted a person may have difficulty swallowing, constipation, or diarrhea. There is no cure and the cause of the disease is poorly understood.

How Common is It?
Scleroderma affects around 300,000 people in the United States (roughly 0.001% of the population), so it's quite rare. Women are about 4 times more likely to get scleroderma than men and tends to be diagnosed between the ages of 25 and 55.

What About Diagnosis and Treatment?
Diagnosing scleroderma can be difficult, and what type of physician doing the testing depends on the part of the body affected.  Blood tests to check for certain antibodies, tissue biopsies, pulmonary function tests, or CT scans may be used to diagnose scleroderma.

Treatments that act on the underlying bodily processes that drive scleroderma are unfortunately limited.  Sometimes scleroderma is mild enough that medications or other treatments aren't required.  Otherwise, the goal is to manage the symptoms that the disease creates, again depending on the parts of the body affected.  For example, in a person where scleroderma affects the circulatory system, they would use blood pressure medications that dilate blood vessels to prevent lung and kidney problems.  If the disease impacts the digestive system, acid reducing medications may be used to reduce heartburn.  Some medications that suppress the immune system seem to help as well.

What About the Social and Emotional Impact?
The good news is in 2010, an international consortium of researchers published a consensus agenda for research on social and emotional aspects of scleroderma. Research has shown that scleroderma affects many areas of a person's life, including depression and anxiety, fatigue and sleep issues, chronic pain, chronic itching, body image concerns, sexual function, and work disability.

Rates of depression in scleroderma patients range from 36 to 65%.  Depression is most related to pain levels, fatigue, the quality of the person's social support, feelings of helplessness, and fears of progression of the disease. Scleroderma often leads to disfigurement to the hands, mouth or face which can lead to body image concerns as extensive as those seen in patients with severe burn injuries.

Sexual dysfunction is also reported among people living with scleroderma.  Women are particularly affected, and report problems at similar rates as those living with HIV, gynecological cancer, and breast cancer.  Fatigue can also have major impacts, including predicting work disability.  Levels of fatigue in scleroderma are on par with rheumatoid arthritis, lupus, and some cancers.

Helpful Resources:
The Scleroderma Foundation
Scleroderma Research Foundation
International Scleroderma Network